Incidental Mutation 'R5099:Dcdc2a'
| ID |
388189 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dcdc2a
|
| Ensembl Gene |
ENSMUSG00000035910 |
| Gene Name |
doublecortin domain containing 2a |
| Synonyms |
RU2, Dcdc2 |
| MMRRC Submission |
042688-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.317)
|
| Stock # |
R5099 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
25239987-25394689 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 25291681 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 222
(E222G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063650
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036932]
[ENSMUST00000069614]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036932
AA Change: E222G
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000047641
Gene: ENSMUSG00000035910
AA Change: E222G
| Domain | Start | End | E-Value | Type |
|---|
|
DCX
|
12 |
100 |
2.93e-40 |
SMART |
|
DCX
|
134 |
221 |
1.76e-34 |
SMART |
|
low complexity region
|
286 |
299 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069614
AA Change: E222G
PolyPhen 2
Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000063650
Gene: ENSMUSG00000035910
AA Change: E222G
| Domain | Start | End | E-Value | Type |
|---|
|
DCX
|
12 |
100 |
2.93e-40 |
SMART |
|
DCX
|
134 |
221 |
1.76e-34 |
SMART |
|
low complexity region
|
286 |
299 |
N/A |
INTRINSIC |
|
low complexity region
|
325 |
340 |
N/A |
INTRINSIC |
|
coiled coil region
|
409 |
437 |
N/A |
INTRINSIC |
|
low complexity region
|
461 |
475 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159129
|
| Meta Mutation Damage Score |
0.0969 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
| Validation Efficiency |
98% (41/42) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two doublecortin domains. The doublecortin domain has been demonstrated to bind tubulin and enhance microtubule polymerization. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Sep 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired short term object recognition, impaired visuo-spatial learning and memory and increased anxiety-related response. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arsa |
A |
G |
15: 89,359,542 (GRCm39) |
L80P |
probably damaging |
Het |
| Bdkrb1 |
A |
G |
12: 105,570,533 (GRCm39) |
D33G |
probably benign |
Het |
| Ccdc178 |
A |
T |
18: 22,238,648 (GRCm39) |
V323E |
probably benign |
Het |
| Ceacam5 |
T |
C |
7: 17,479,513 (GRCm39) |
V210A |
probably damaging |
Het |
| Gbp9 |
A |
T |
5: 105,242,379 (GRCm39) |
L120Q |
probably damaging |
Het |
| Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
| Gsr |
T |
A |
8: 34,161,556 (GRCm39) |
I121N |
probably damaging |
Het |
| Ift140 |
T |
A |
17: 25,309,674 (GRCm39) |
M1068K |
probably damaging |
Het |
| Jakmip2 |
A |
G |
18: 43,701,173 (GRCm39) |
I414T |
probably benign |
Het |
| Lpin2 |
G |
A |
17: 71,550,965 (GRCm39) |
W708* |
probably null |
Het |
| Mecom |
A |
G |
3: 30,039,465 (GRCm39) |
|
probably benign |
Het |
| Mff |
C |
T |
1: 82,728,192 (GRCm39) |
|
probably benign |
Het |
| Ms4a20 |
T |
C |
19: 11,089,825 (GRCm39) |
|
probably null |
Het |
| Neb |
C |
T |
2: 52,085,460 (GRCm39) |
C1545Y |
probably damaging |
Het |
| Or5ac24 |
C |
T |
16: 59,165,266 (GRCm39) |
G266D |
probably benign |
Het |
| Or5p5 |
A |
G |
7: 107,413,809 (GRCm39) |
H6R |
probably benign |
Het |
| Or8k36-ps1 |
A |
T |
2: 86,437,560 (GRCm39) |
N118K |
unknown |
Het |
| Ppm1n |
A |
T |
7: 19,011,903 (GRCm39) |
L392Q |
possibly damaging |
Het |
| Prr22 |
T |
C |
17: 57,078,467 (GRCm39) |
F207L |
probably benign |
Het |
| Ptprv |
T |
C |
1: 135,046,592 (GRCm39) |
|
noncoding transcript |
Het |
| Rin2 |
G |
A |
2: 145,720,821 (GRCm39) |
C718Y |
probably damaging |
Het |
| Rpgrip1l |
G |
A |
8: 91,975,350 (GRCm39) |
T1089I |
probably benign |
Het |
| Scn1a |
A |
G |
2: 66,108,145 (GRCm39) |
V1510A |
probably damaging |
Het |
| Slfn3 |
A |
T |
11: 83,105,764 (GRCm39) |
Y587F |
probably damaging |
Het |
| Sp2 |
T |
C |
11: 96,852,175 (GRCm39) |
K250E |
probably damaging |
Het |
| Ssu2 |
A |
G |
6: 112,336,585 (GRCm39) |
S333P |
probably benign |
Het |
| Strbp |
T |
C |
2: 37,493,030 (GRCm39) |
T419A |
probably damaging |
Het |
| Tada2b |
A |
T |
5: 36,633,744 (GRCm39) |
M203K |
probably benign |
Het |
| Tmem176b |
T |
C |
6: 48,811,463 (GRCm39) |
Y62C |
probably benign |
Het |
| Tox |
G |
T |
4: 6,688,958 (GRCm39) |
Q469K |
probably benign |
Het |
| Trgv5 |
G |
T |
13: 19,376,886 (GRCm39) |
C111F |
probably damaging |
Het |
| Tyw5 |
T |
C |
1: 57,427,864 (GRCm39) |
N243D |
probably damaging |
Het |
| Ube2q2 |
T |
A |
9: 55,113,307 (GRCm39) |
|
probably benign |
Het |
| Ufl1 |
C |
T |
4: 25,275,914 (GRCm39) |
R83Q |
probably damaging |
Het |
| Unk |
A |
G |
11: 115,949,936 (GRCm39) |
Q701R |
probably benign |
Het |
| Vmn1r60 |
A |
T |
7: 5,547,816 (GRCm39) |
C95S |
probably damaging |
Het |
| Vmn1r81 |
A |
G |
7: 11,994,248 (GRCm39) |
I120T |
possibly damaging |
Het |
|
| Other mutations in Dcdc2a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01160:Dcdc2a
|
APN |
13 |
25,303,312 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01314:Dcdc2a
|
APN |
13 |
25,286,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02171:Dcdc2a
|
APN |
13 |
25,240,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02490:Dcdc2a
|
APN |
13 |
25,291,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0128:Dcdc2a
|
UTSW |
13 |
25,371,655 (GRCm39) |
splice site |
probably benign |
|
|
R0130:Dcdc2a
|
UTSW |
13 |
25,371,655 (GRCm39) |
splice site |
probably benign |
|
|
R0366:Dcdc2a
|
UTSW |
13 |
25,240,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0507:Dcdc2a
|
UTSW |
13 |
25,286,572 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0514:Dcdc2a
|
UTSW |
13 |
25,303,369 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1055:Dcdc2a
|
UTSW |
13 |
25,286,593 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1170:Dcdc2a
|
UTSW |
13 |
25,240,290 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1301:Dcdc2a
|
UTSW |
13 |
25,286,569 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1514:Dcdc2a
|
UTSW |
13 |
25,245,237 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1842:Dcdc2a
|
UTSW |
13 |
25,291,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2060:Dcdc2a
|
UTSW |
13 |
25,291,693 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R2121:Dcdc2a
|
UTSW |
13 |
25,303,268 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2122:Dcdc2a
|
UTSW |
13 |
25,303,268 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2900:Dcdc2a
|
UTSW |
13 |
25,304,481 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3153:Dcdc2a
|
UTSW |
13 |
25,286,340 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3154:Dcdc2a
|
UTSW |
13 |
25,286,340 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4353:Dcdc2a
|
UTSW |
13 |
25,240,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4608:Dcdc2a
|
UTSW |
13 |
25,245,223 (GRCm39) |
nonsense |
probably null |
|
|
R5128:Dcdc2a
|
UTSW |
13 |
25,286,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5181:Dcdc2a
|
UTSW |
13 |
25,386,347 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5271:Dcdc2a
|
UTSW |
13 |
25,371,671 (GRCm39) |
missense |
probably benign |
0.35 |
|
R5869:Dcdc2a
|
UTSW |
13 |
25,291,713 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6058:Dcdc2a
|
UTSW |
13 |
25,240,354 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6146:Dcdc2a
|
UTSW |
13 |
25,389,440 (GRCm39) |
missense |
probably benign |
0.35 |
|
R6892:Dcdc2a
|
UTSW |
13 |
25,240,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6956:Dcdc2a
|
UTSW |
13 |
25,303,349 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6972:Dcdc2a
|
UTSW |
13 |
25,304,372 (GRCm39) |
intron |
probably benign |
|
|
R6973:Dcdc2a
|
UTSW |
13 |
25,304,372 (GRCm39) |
intron |
probably benign |
|
|
R7097:Dcdc2a
|
UTSW |
13 |
25,291,681 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7247:Dcdc2a
|
UTSW |
13 |
25,286,374 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7390:Dcdc2a
|
UTSW |
13 |
25,291,600 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7570:Dcdc2a
|
UTSW |
13 |
25,303,356 (GRCm39) |
missense |
probably benign |
|
|
R7636:Dcdc2a
|
UTSW |
13 |
25,286,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7644:Dcdc2a
|
UTSW |
13 |
25,291,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7898:Dcdc2a
|
UTSW |
13 |
25,286,361 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8070:Dcdc2a
|
UTSW |
13 |
25,386,180 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8183:Dcdc2a
|
UTSW |
13 |
25,291,633 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8829:Dcdc2a
|
UTSW |
13 |
25,294,051 (GRCm39) |
nonsense |
probably null |
|
|
R8865:Dcdc2a
|
UTSW |
13 |
25,386,266 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8867:Dcdc2a
|
UTSW |
13 |
25,386,266 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8868:Dcdc2a
|
UTSW |
13 |
25,386,266 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9290:Dcdc2a
|
UTSW |
13 |
25,386,313 (GRCm39) |
missense |
probably benign |
|
|
R9694:Dcdc2a
|
UTSW |
13 |
25,286,340 (GRCm39) |
missense |
probably benign |
0.27 |
|
R9760:Dcdc2a
|
UTSW |
13 |
25,389,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGGAAGAGTAACTGGTGAGCC -3'
(R):5'- TGTTCCACATGCAAGGGAGC -3'
Sequencing Primer
(F):5'- GTAACTGGTGAGCCCCATCAAG -3'
(R):5'- GCACATGAGATAGTGGCCTCTCTAC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation